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Summary
SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY
2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY SBCADD
600301
OMIM = Online Medalian Inheritance of Men
10q25-q26

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
autosomal recessive very rare
symptoms
athetosis
hypotonia
mental retardation
motor retardation
muscle atrophy
seizures
strabismus
laboratory finding
2-Methylbutyrylglycine0.000.00 increasedurineno data
MRI, brain, abnormalities -
2-Ethylhydracrilic acid0.000.00 increasedurineno data
Isovaleryl/2-Methylbutyrylcarnitine (C5) increasedblood
2-Methylbutyrylcarnitine0.000.00 increasedurineno data
Literature
Gospe SMOlin KL, Keen CLReduced GABA synthesis in pyridoxine-dependent seizuresLancet34301133-11341994
Saenger Pet al.Congenital lipoid adrenal hyperplasia - genes for P450scc, side chain cleavage enzyme, are normalJ Steroid Biochem Mol Biol45087-971993
Ito Y et al.Molecular basis of aromatase deficiency in an adult with sexual infantilism and polycystic ovariesProc Natl Acad Sci USA90011673-771993
Peng Het al.Asymptomatic alpha-ketoadipic aciduria detected during a pilot study of neonatal urine screeningActa Paediatr888911-9141999
Baumeister FAet al.Glutamate in pyridoxine-dependent epilepsy: neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxinePediatrics943318-3211994